Canonical Allele Identifier: CA480266218

Gene: KIF5A

Linked Data

• dbSNP Id: rs776798327
• gnomAD v3: 12-57581879-C-T
• gnomAD v4: 12-57581879-C-T
• MyVariant Identifiers: chr12:g.57975662C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581879C>T , CM000674.2:g.57581879C>T	GRCh38
NC_000012.11:g.57975662C>T , CM000674.1:g.57975662C>T	GRCh37
NC_000012.10:g.56261929C>T	NCBI36
NG_008155.1:g.36816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2919C>T MANE Select	ENSP00000408979.2:p.Asn973=
ENST00000674619.1:c.2940C>T	ENSP00000502270.1:p.Asn980=
ENST00000675697.1:c.10C>T
ENST00000675737.1:n.323C>T
ENST00000675882.1:n.2442C>T
ENST00000675929.1:n.1477C>T
ENST00000676055.1:c.10C>T
ENST00000676457.1:c.2814C>T	ENSP00000501588.1:p.Asn938=
ENST00000286452.5:c.2652C>T	ENSP00000286452.5:p.Asn884=
ENST00000455537.6:c.2919C>T	ENSP00000408979.2:p.Asn973=
ENST00000552227.1:n.202C>T
NM_004984.2:c.2919C>T	NP_004975.2:p.Asn973=
NM_001354705.1:c.2652C>T	NP_001341634.1:p.Asn884=
NM_004984.3:c.2919C>T	NP_004975.2:p.Asn973=
XR_002957324.1:n.3152C>T
NM_004984.4:c.2919C>T MANE Select	NP_004975.2:p.Asn973=
NM_001354705.2:c.2652C>T	NP_001341634.1:p.Asn884=